Canonical Allele Identifier: CA350903352

Gene: SP110

Linked Data

• gnomAD v4: 2-230177654-C-T
• MyVariant Identifiers: chr2:g.231042370C>T (hg19) ; chr2:g.230177654C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.230177654C>T , CM000664.2:g.230177654C>T	GRCh38
NC_000002.11:g.231042370C>T , CM000664.1:g.231042370C>T	GRCh37
NC_000002.10:g.230750614C>T	NCBI36
NG_008295.1:g.47458G>A , LRG_109:g.47458G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462232.2:c.865G>A	ENSP00000513566.1:p.Glu289Lys
ENST00000489597.2:c.1474G>A	ENSP00000513565.1:p.Glu492Lys
ENST00000698099.1:c.1474G>A	ENSP00000513563.1:p.Glu492Lys
ENST00000698100.1:c.1324G>A	ENSP00000513564.1:p.Glu442Lys
ENST00000698101.1:n.196G>A
ENST00000698102.1:n.2290G>A
ENST00000698103.1:c.1324G>A	ENSP00000513567.1:p.Glu442Lys
ENST00000258381.11:c.1474G>A MANE Select	ENSP00000258381.6:p.Glu492Lys
ENST00000258382.10:c.1474G>A	ENSP00000258382.5:p.Glu492Lys
ENST00000358662.9:c.1474G>A	ENSP00000351488.4:p.Glu492Lys
ENST00000540870.5:c.1492G>A	ENSP00000439558.1:p.Glu498Lys
ENST00000258381.10:c.1474G>A	ENSP00000258381.6:p.Glu492Lys
ENST00000258382.9:c.1474G>A	ENSP00000258382.5:p.Glu492Lys
ENST00000358662.8:c.1474G>A	ENSP00000351488.4:p.Glu492Lys
ENST00000392048.7:c.1468G>A	ENSP00000375902.3:p.Glu490Lys
ENST00000489597.1:n.128G>A
ENST00000540870.4:c.1492G>A	ENSP00000439558.1:p.Glu498Lys
NM_001185015.1:c.1492G>A	NP_001171944.1:p.Glu498Lys
NM_004509.3:c.1474G>A	NP_004500.3:p.Glu492Lys
NM_004510.3:c.1474G>A	NP_004501.3:p.Glu492Lys
NM_080424.2:c.1474G>A , LRG_109t1:c.1474G>A	NP_536349.2:p.Glu492Lys
XM_005246525.2:c.1492G>A	XP_005246582.1:p.Glu498Lys
XM_006712487.2:c.1492G>A	XP_006712550.1:p.Glu498Lys
XM_006712489.2:c.1492G>A	XP_006712552.1:p.Glu498Lys
XM_011511088.1:c.1492G>A	XP_011509390.1:p.Glu498Lys
XM_011511089.1:c.1474G>A	XP_011509391.1:p.Glu492Lys
XM_011511090.1:c.1342G>A	XP_011509392.1:p.Glu448Lys
XM_011511091.1:c.1492G>A	XP_011509393.1:p.Glu498Lys
XM_011511092.1:c.865G>A	XP_011509394.1:p.Glu289Lys
XM_005246525.4:c.1492G>A	XP_005246582.1:p.Glu498Lys
XM_006712487.3:c.1492G>A	XP_006712550.1:p.Glu498Lys
XM_006712489.4:c.1492G>A	XP_006712552.1:p.Glu498Lys
XM_011511088.3:c.1492G>A	XP_011509390.1:p.Glu498Lys
XM_011511089.3:c.1474G>A	XP_011509391.1:p.Glu492Lys
XM_011511090.3:c.1342G>A	XP_011509392.1:p.Glu448Lys
XM_011511091.3:c.1492G>A	XP_011509393.1:p.Glu498Lys
XM_011511092.3:c.865G>A	XP_011509394.1:p.Glu289Lys
XM_017003968.2:c.1492G>A	XP_016859457.1:p.Glu498Lys
XM_017003969.1:c.1342G>A	XP_016859458.1:p.Glu448Lys
XM_024452850.1:c.1342G>A	XP_024308618.1:p.Glu448Lys
XM_024452851.1:c.1324G>A	XP_024308619.1:p.Glu442Lys
NM_001185015.2:c.1492G>A	NP_001171944.1:p.Glu498Lys
NM_004509.4:c.1474G>A	NP_004500.4:p.Glu492Lys
NM_004510.4:c.1474G>A	NP_004501.4:p.Glu492Lys
NM_080424.3:c.1474G>A	NP_536349.3:p.Glu492Lys
NM_001378442.1:c.1492G>A	NP_001365371.1:p.Glu498Lys
NM_001378443.1:c.1474G>A	NP_001365372.1:p.Glu492Lys
NM_001378444.1:c.1492G>A	NP_001365373.1:p.Glu498Lys
NM_001378445.1:c.1492G>A	NP_001365374.1:p.Glu498Lys
NM_001378446.1:c.1492G>A	NP_001365375.1:p.Glu498Lys
NM_001378447.1:c.1324G>A	NP_001365376.1:p.Glu442Lys
NM_004509.5:c.1474G>A	NP_004500.4:p.Glu492Lys
NM_080424.4:c.1474G>A MANE Select	NP_536349.3:p.Glu492Lys